Art

J-GLOBAL ID：201402218610609748   Reference number：14A0149624

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

EFHC1欠乏症は自発的ミオクローヌスと増加した痙攣感受性を引き起こす

Author (14)： SUZUKI Toshimitsu (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  MIYAMOTO Hiroyuki (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  NAKAHARI Takashi (Dep. of Physiology, Osaka Medical Coll., Osaka 569-8686, JPN) ,  INOUE Ikuyo (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  SUEMOTO Takahiro (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  JIANG Bin (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  HIROTA Yuki (Nagoya City Univ. Graduate School of Medical Sci., Nagoya 467-8601, JPN) ,  ITOHARA Shigeyoshi (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  SAIDO Takaomi C. (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  TSUMOTO Tadaharu (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  SAWAMOTO Kazunobu (Nagoya City Univ. Graduate School of Medical Sci., Nagoya 467-8601, JPN) ,  HENSCH Takao K. (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN) ,  DELGADO-ESCUETA Antonio V. (UCLA Geffen School of Medicine and VA GLAHS-West Los Angeles, Los Angeles, CA 90073, USA) ,  YAMAKAWA Kazuhiro (RIKEN Brain Sci. Inst. (BSI), 2-1 Hirosawa, Wako-shi, 351-0198 Saitama, JPN)
Material： Human Molecular Genetics  (Hum Mol Genet)
Volume： 18  Issue： 6  Page： 1099-1109  Publication year： Mar. 15, 2009 
JST Material Number： W0445A  ISSN： 0964-6906  CODEN： HMGEE5  Document type： Article
Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Terms in the title (4)： 欠乏症 ,  ミオクローヌス ,  痙攣 ,  感受性